XPV
MCID: XRD010
MIFTS: 58

Xeroderma Pigmentosum, Variant Type (XPV) malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 52 48 12
Xeroderma Pigmentosum 11 71 23 48 24 25 12 50 39 13
Xpv 11 48 54 70
Xeroderma Pigmentosum with Normal Dna Repair Rates 11 48 70
Xeroderma Pigmentosum Variant Type 11 70 13
Xp 48 24 25
 
Photosensitivity with Defective Dna Synthesis 11 48
Xeroderma Pigmentosum Variant 54 27
Desanctis-Cacchione Syndrome 24 25
Xeroderma Pigmentosa 48 24
De Sanctis-Cacchione Syndrome 68

Characteristics:

Orphanet epidemiological data:

54
xpv:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

64
xeroderma pigmentosum, variant type:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 278750
Disease Ontology11 DOID:0050427, DOID:0110847
ICD1030 Q82.1
MeSH39 D014983
NCIt45 C3452
SNOMED-CT62 44600005
Orphanet54 ORPHA90342
UMLS via Orphanet69 C0432328, C1848410
MESH via Orphanet40 C536766
ICD10 via Orphanet31 Q82.1
MedGen37 C1848410

Summaries for Xeroderma Pigmentosum, Variant Type

About this section
NIH Rare Diseases:48 Xeroderma pigmentosum (xp) is an inherited condition characterized by an extreme sensitivity to ultraviolet (uv) rays from sunlight. this condition mostly affects the eyes and areas of skin exposed to the sun. some affected individuals also have problems involving the nervous system. symptoms typically develop by the time a child is 2 years old. xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged dna. inherited mutations in at least nine genes have been identified. the condition is inherited in an autosomal recessive manner. people with xp need total protection from sunlight. this includes protective clothing, sunscreen, and dark sunglasses when out in the sun. to prevent skin cancer, medications like retinoid creams may be prescribed. skin cancers that do develop should be treated using standard practices. last updated: 6/24/2016

MalaCards based summary: Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to cerebrooculofacioskeletal syndrome 2 and xeroderma pigmentosum, group f, and has symptoms including Array, Array and Array. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (DNA Polymerase Eta), and among its related pathways are p53 Pathway (RnD) and Platinum drug resistance. Affiliated tissues include skin and eye, and related mouse phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor).

Disease Ontology:11 An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair.

Genetics Home Reference:25 Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

OMIM:52 Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects... (278750) more...

UniProtKB/Swiss-Prot:70 Xeroderma pigmentosum variant type: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.

Wikipedia:71 Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder of DNA repair in which the... more...

GeneReviews for NBK1397

Related Diseases for Xeroderma Pigmentosum, Variant Type

About this section

Diseases in the Xeroderma Pigmentosum, Variant Type family:

Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9
Ddb2-Related Xeroderma Pigmentosum Ercc1-Related Xeroderma Pigmentosum
Ercc2-Related Xeroderma Pigmentosum Ercc3-Related Xeroderma Pigmentosum
Ercc4-Related Xeroderma Pigmentosum Ercc5-Related Xeroderma Pigmentosum
Polh-Related Xeroderma Pigmentosum Xpa-Related Xeroderma Pigmentosum
Xpc-Related Xeroderma Pigmentosum

Diseases related to Xeroderma Pigmentosum, Variant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1cerebrooculofacioskeletal syndrome 231.2ERCC1, ERCC2, ERCC3, OGG1, RAD23B, XPA
2xeroderma pigmentosum, group f12.7
3xeroderma pigmentosum, group g12.7
4xeroderma pigmentosum, group d12.7
5xeroderma pigmentosum, group c12.7
6xeroderma pigmentosum, group a12.7
7xeroderma pigmentosum, group b12.7
8xeroderma pigmentosum group e12.5
9xeroderma pigmentosum, group e, ddb-negative subtype12.3
10xeroderma pigmentosum-cockayne syndrome complex12.2
11xeroderma pigmentosum, type 912.0
12ercc1-related xeroderma pigmentosum12.0
13xeroderma pigmentosum, type 211.9
14ddb2-related xeroderma pigmentosum11.9
15ercc2-related xeroderma pigmentosum11.9
16ercc3-related xeroderma pigmentosum11.9
17ercc4-related xeroderma pigmentosum11.9
18ercc5-related xeroderma pigmentosum11.9
19polh-related xeroderma pigmentosum11.9
20xpa-related xeroderma pigmentosum11.9
21xpc-related xeroderma pigmentosum11.9
22chromosome xp deletion11.9
23cockayne syndrome, type a11.7
24de sanctis-cacchione syndrome11.5
25cerebrooculofacioskeletal syndrome 311.3
26cockayne syndrome, type b11.2
27basal cell carcinoma 111.0
28cerebrooculofacioskeletal syndrome 111.0
29cerebrooculofacioskeletal syndrome 411.0
30cockayne syndrome10.7
31melanoma10.5
32squamous cell carcinoma10.5
33basal cell carcinoma10.4
34lung cancer10.3
35angiosarcoma10.3
36ataxia10.3
37supranuclear palsy, progressive, 310.2DDB1, DDB2, XPC
38thymus lymphoma10.2ERCC2, TP53, XPA
39autoimmune disease 310.2ERCC1, ERCC2, ERCC3
40macular degeneration, age-related 510.2ERCC2, ERCC5
41prostate cancer10.2
42breast cancer10.2
43gastric cancer10.2
44prostatitis10.2
45specific language impairment10.2ERCC2, ERCC3, ERCC5
46confetti-like macular atrophy10.2ERCC2, ERCC3, ERCC4, ERCC5
47alpha chain disease10.2ERCC2, POLH, TP53, XPA
48qazi markouizos syndrome10.2ERCC1, ERCC2, ERCC3, XPA
49ataxia-telangiectasia10.1
50ovarian cancer10.1

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to xeroderma pigmentosum, variant type

Symptoms & Phenotypes for Xeroderma Pigmentosum, Variant Type

About this section

Symptoms by clinical synopsis from OMIM:

278750

Clinical features from OMIM:

278750

Human phenotypes related to Xeroderma Pigmentosum, Variant Type:

 54 64 (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 keratitis64 54 Frequent (79-30%) HP:0000491
2 photophobia64 54 Frequent (79-30%) HP:0000613
3 hyperpigmentation of the skin54 Very frequent (99-80%)
4 dry skin64 54 Frequent (79-30%) HP:0000958
5 cutaneous photosensitivity64 54 Very frequent (99-80%) HP:0000992
6 telangiectasia64 54 Frequent (79-30%) HP:0001009
7 hypopigmentation of the skin64 54 Very frequent (99-80%) HP:0001010
8 poikiloderma64 54 Very frequent (99-80%) HP:0001029
9 basal cell carcinoma64 54 Frequent (79-30%) HP:0002671
10 squamous cell carcinoma64 54 Frequent (79-30%) HP:0002860
11 melanoma64 54 Frequent (79-30%) HP:0002861
12 dermal atrophy64 54 Frequent (79-30%) HP:0004334
13 freckles in sun-exposed areas64 54 Very frequent (99-80%) HP:0007603
14 conjunctivitis64 HP:0000509
15 entropion64 HP:0000621
16 ectropion64 HP:0000656
17 cutaneous melanoma64 HP:0012056
18 cryptorchidism64 HP:0000028
19 hypogonadism64 HP:0000135
20 abnormality of the teeth64 HP:0000164
21 microcephaly64 HP:0000252
22 sensorineural hearing impairment64 HP:0000407
23 strabismus64 HP:0000486
24 blepharitis64 HP:0000498
25 cataract64 HP:0000518
26 conjunctival telangiectasia64 HP:0000524
27 optic atrophy64 HP:0000648
28 hyperkeratosis64 HP:0000962
29 thin skin64 HP:0000963
30 melanocytic nevus64 HP:0000995
31 hypermelanotic macule64 HP:0001034
32 hypopigmented skin patches64 HP:0001053
33 pterygium64 HP:0001059
34 seizures64 HP:0001250
35 ataxia64 HP:0001251
36 spasticity64 HP:0001257
37 reduced tendon reflexes64 HP:0001315
38 freckling64 HP:0001480
39 failure to thrive64 HP:0001508
40 alopecia64 HP:0001596
41 fever64 HP:0001945
42 abnormality of extrapyramidal motor function64 HP:0002071
43 cerebral cortical atrophy64 HP:0002120
44 eeg abnormality64 HP:0002353
45 developmental regression64 HP:0002376
46 delayed skeletal maturation64 HP:0002750
47 arthralgia64 HP:0002829
48 aminoaciduria64 HP:0003355
49 short stature64 HP:0004322
50 craniofacial hyperostosis64 HP:0004493
51 intellectual disability, progressive64 HP:0006887
52 opacification of the corneal stroma64 HP:0007759
53 decreased testicular size64 HP:0008734
54 ankyloblepharon64 HP:0009755
55 peripheral neuropathy64 HP:0009830
56 flat nasal alae64 HP:0010649
57 erythema64 HP:0010783
58 fatigue64 HP:0012378
59 papilloma64 HP:0012740
60 neoplasm of the eye64 HP:0100012
61 cognitive impairment64 HP:0100543
62 telangiectasia of the skin64 HP:0100585

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-37.7CETN2, DDB1, DDB2, ERCC1, ERCC2, ERCC3
2GR00250-A-17.5CUL4A, DDB2, ERCC1, ERCC4, RPA1, TP53

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

41 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.3ERCC2, HPRT1, POLH, TP53, XPA
2MP:00053829.8CETN2, ERCC3, HPRT1, POLH, RAD23B, TP53
3MP:00053709.5CUL4A, ERCC1, ERCC4, ERCC5, HPRT1, OGG1
4MP:00053869.3ERCC1, ERCC2, ERCC3, HPRT1, OGG1, RAD23B
5MP:00107719.2DDB2, ERCC1, ERCC2, ERCC3, ERCC5, HPRT1
6MP:00053978.8CUL4A, ERCC1, ERCC2, ERCC5, HPRT1, OGG1
7MP:00053878.5CUL4A, ERCC1, ERCC2, ERCC5, HPRT1, OGG1
8MP:00053918.4CETN2, DDB1, ERCC2, ERCC3, HPRT1, RAD23B
9MP:00020068.4CUL4A, DDB2, ERCC1, ERCC2, ERCC3, HPRT1
10MP:00053768.3CUL4A, ERCC1, ERCC2, ERCC3, ERCC5, HPRT1
11MP:00053788.1CETN2, CUL4A, DDB2, ERCC1, ERCC2, ERCC3
12MP:00053847.5CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
13MP:00107687.2CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

About this section

Drugs for Xeroderma Pigmentosum, Variant Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenalidomideapprovedPhase 2736191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
D04687
 
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
lenalidomide
2Angiogenesis Modulating AgentsPhase 24185
3Immunosuppressive AgentsPhase 213086
4Angiogenesis InhibitorsPhase 24257
5Anti-Infective AgentsPhase 222062
6Anti-Bacterial AgentsPhase 211226
7
Isotretinoinapproved1244759-48-25538, 5282379
Synonyms:
(13-cis)-Retinoate
(13-cis)-Retinoic acid
(13cis)-retinoic acid
(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoic acid
(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
(7E,9E,11E,13Z)-retinoic acid
(7e,9e,11e,13Z)-Retinoic acid
13 Cis-Retinoic Acid
13 cis retinoic acid
13-RA
13-cis RA
13-cis retinoic acid
13-cis-Retinoate
13-cis-Retinoic acid
13-cis-Vitamin A acid
13-cis-Vitamin a acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)2-cis-4-trans-6-trans-8-trans-nonatetraenoic acid
4-09-00-02388 (Beilstein Handbook Reference)
4759-48-2
97950-17-9
AC-15388
AC1NQZZ4
Accutane
Accutane (TN)
Ambap302-79-4
Amnesteem
BML2-E07
BPBio1_000080
BRD-K76723084-001-05-9
BRN 1885770
BSPBio_000072
BSPBio_001331
BSPBio_003345
CCRIS 4286
CHEBI:6067
CHEMBL547
CID5282379
CIP-Isotretinoin
CPD000471891
Claravis
D00348
D015474
EINECS 225-296-0
EU-0101081
HMS1361C13
HMS1568D14
HMS1791C13
HMS1921D08
HMS1989C13
HMS2092N07
HSDB 3929
IDI1_033801
Isotane
Isotretinoin
Isotretinoin (USP)
Isotretinoin Retinoic acid
 
Isotretinoin Zinc Salt, 13 cis Isomer
Isotretinoin Zinc Salt, 13-cis-Isomer
Isotretinoin [USAN:BAN:INN]
Isotretinoin [USAN:INN:BAN]
Isotretinoina
Isotretinoine
Isotretinoine [INN-French]
Isotretinoino
Isotretinoino [INN-Spanish]
Isotretinoinum
Isotretinoinum [INN-Latin]
Isotrex
LMPR01090021
LS-143465
Lopac0_001081
MLS001074662
MolPort-003-666-394
NCGC00094358-01
NCGC00094358-02
NCGC00094358-03
NCGC00094358-04
NCGC00094358-05
NCGC00094358-06
NCGC00094358-07
NCGC00094358-08
NCGC00094358-09
NCGC00094358-13
Neovitamin A acid
Neovitamin a acid
Prestwick2_000256
Prestwick3_000256
Prestwick_642
R 3255
R3255_SIGMA
Retinoate
Retinoic acid
Ro 4 3780
Ro 4-3780
Ro 43780
Ro-4-3780
Ro-43780
Roaccutan
Roaccutane
Roacutan
SAM002548955
SMR000471891
SPECTRUM1502013
Sotret
Sotret (TN)
Spectrum5_001795
Spectrum5_001937
Teriosal
UNII-EH28UP18IF
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino
8Sunscreening Agents118
9Protective Agents7443
10Dermatologic Agents5806
11Radiation-Protective Agents480

Interventional clinical trials:

idNameStatusNCT IDPhase
1T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma PigmentosumUnknown statusNCT00002811Phase 3
2Lenalidomide in Kaposi Disease Associated With HIV InfectionTerminatedNCT01282047Phase 2
3Xeroderma Pigmentosum Patient ExperiencesUnknown statusNCT01123694
4Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
5Isotretinoin in Preventing Skin CancerCompletedNCT00025012
6Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or TrichothiodystrophyRecruitingNCT00001813
7Cancer Risk in Carriers of the Gene for Xeroderma PigmentosumRecruitingNCT00046189
8Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian PopulationNot yet recruitingNCT02388854

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type


Cochrane evidence based reviews: xeroderma pigmentosum

Genetic Tests for Xeroderma Pigmentosum, Variant Type

About this section

Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type27
2 Xeroderma Pigmentosum27 24 XPC

Anatomical Context for Xeroderma Pigmentosum, Variant Type

About this section

MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

36
Skin, Eye

Publications for Xeroderma Pigmentosum, Variant Type

About this section

Articles related to Xeroderma Pigmentosum, Variant Type:

idTitleAuthorsYear
1
Three school-age cases of xeroderma pigmentosum variant type. (23651273)
2013
2
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. (23630442)
2013
3
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. (18703314)
2008
4
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. (17344931)
2007

Variations for Xeroderma Pigmentosum, Variant Type

About this section

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

70
id Symbol AA change Variation ID SNP ID
1POLHp.Arg111HisVAR_021227rs758423288
2POLHp.Thr122ProVAR_021228
3POLHp.Gly263ValVAR_021230
4POLHp.Arg361SerVAR_021232
5POLHp.Lys535GluVAR_021234rs56307355
6POLHp.Lys589ThrVAR_021236rs121908565
7POLHp.Arg93ProVAR_070836rs756931657
8POLHp.Val266AspVAR_070837
9POLHp.Gly295ArgVAR_070838
10POLHp.Thr692AlaVAR_070839rs199562456

Clinvar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1POLHNM_ 006502.2(POLH): c.764+1G> ASNVPathogenicrs772570523GRCh38Chr 6, 43601092: 43601092
2POLHNM_ 006502.2(POLH): c.907C> T (p.Arg303Ter)SNVPathogenicrs759607901GRCh38Chr 6, 43604637: 43604637
3POLHNM_ 006502.2(POLH): c.490G> T (p.Glu164Ter)SNVPathogenicrs767433001GRCh37Chr 6, 43555226: 43555226
4POLHNM_ 006502.2(POLH): c.725C> G (p.Ser242Ter)SNVPathogenicrs745778317GRCh37Chr 6, 43568789: 43568789
5POLHNM_ 006502.2(POLH): c.1661delA (p.Asn555Thrfs)deletionPathogenicrs886039225GRCh37Chr 6, 43581813: 43581813
6POLHNM_ 006502.2(POLH): c.1075-?_ 1244+?deldeletionPathogenic
7POLHPOLH, 13-BP DEL, NT343deletionPathogenic
8POLHPOLH, 4-BP DEL, NT289deletionPathogenic
9POLHPOLH, 2-BP DEL, NT770deletionPathogenic
10POLHNM_ 006502.2(POLH): c.916G> T (p.Glu306Ter)SNVPathogenicrs121908562GRCh37Chr 6, 43572383: 43572383
11POLHPOLH, DEL AND TRP297TERdeletionPathogenic
12POLHNM_ 006502.2(POLH): c.376C> T (p.Gln126Ter)SNVPathogenicrs121908563GRCh37Chr 6, 43555112: 43555112
13POLHNM_ 006502.2(POLH): c.1117C> T (p.Gln373Ter)SNVPathogenicrs121908564GRCh37Chr 6, 43578333: 43578333
14POLHPOLH, 104-BP DEL, NT661deletionPathogenic
15POLHPOLH, 1-BP DEL, 207GdeletionPathogenic
16POLHPOLH, 3-BP DEL, NT222deletionPathogenic
17POLHNM_ 006502.2(POLH): c.1603A> G (p.Lys535Glu)SNVPathogenicrs56307355GRCh37Chr 6, 43581755: 43581755
18POLHNM_ 006502.2(POLH): c.1766A> C (p.Lys589Thr)SNVPathogenicrs121908565GRCh37Chr 6, 43581918: 43581918

Expression for genes affiliated with Xeroderma Pigmentosum, Variant Type

About this section
Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for genes affiliated with Xeroderma Pigmentosum, Variant Type

About this section

Pathways related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8DDB2, ERCC5, TP53, XPC
29.8ERCC1, POLH, TP53, XPA
39.6ERCC2, ERCC3, TP53, XPA, XPC
4
Show member pathways
9.5ERCC1, ERCC4, POLH, POLI, RPA1
5
Show member pathways
9.4ERCC1, ERCC4, POLH, RPA1, XRCC3
69.4ERCC1, ERCC2, ERCC3, ERCC4, POLH, XPA
7
Show member pathways
9.2CUL4A, DDB1, POLH, POLI, RPA1
8
Show member pathways
9.1CUL4A, DDB1, OGG1, RPA1, XRCC1
9
Show member pathways
8.1ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, OGG1
107.8DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
11
Show member pathways
7.6CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
12
Show member pathways
7.3CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
13
Show member pathways
6.4CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

GO Terms for genes affiliated with Xeroderma Pigmentosum, Variant Type

About this section

Cellular components related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1core TFIIH complexGO:000043910.9ERCC2, ERCC3
2nucleotide-excision repair complexGO:000010910.9ERCC1, ERCC4
3Cul4B-RING E3 ubiquitin ligase complexGO:003146510.8DDB1, DDB2
4holo TFIIH complexGO:000567510.8ERCC2, ERCC3, ERCC5
5nucleotide-excision repair factor 1 complexGO:000011010.7ERCC1, ERCC4, XPA
6DNA replication factor A complexGO:000566210.7ERCC5, RPA1, XPA
7Cul4A-RING E3 ubiquitin ligase complexGO:003146410.7CUL4A, DDB1
8ERCC4-ERCC1 complexGO:007052210.6ERCC1, ERCC4, XRCC1
9Cul4-RING E3 ubiquitin ligase complexGO:008000810.5CUL4A, DDB1, DDB2
10replication forkGO:000565710.5TP53, XRCC3
11nuclear chromosome, telomeric regionGO:00007849.8DDB1, ERCC1, ERCC4, RPA1, XRCC1, XRCC3
12XPC complexGO:00719429.7CETN2, RAD23B, XPC
13transcription factor TFIID complexGO:00056699.5ERCC1, ERCC2, ERCC3, ERCC4, TP53
14nucleoplasmGO:00056547.2CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
15nucleusGO:00056347.1CETN2, DDB1, DDB2, ERCC1, ERCC2, ERCC3

Biological processes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1pyrimidine dimer repairGO:000629010.9DDB2, POLH
2response to auditory stimulusGO:001099610.9XPA, XPC
3hair cell differentiationGO:003531510.8ERCC2, ERCC3
4response to UV-CGO:001022510.8ERCC5, POLH
5nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.8ERCC4, XPA
6negative regulation of telomere maintenanceGO:003220510.8ERCC1, ERCC4
7error-free translesion synthesisGO:007098710.8POLH, RPA1
8negative regulation of telomere maintenance via telomere lengtheningGO:190435710.8ERCC4, XRCC3
9t-circle formationGO:009065610.7ERCC1, XRCC3
10negative regulation of telomerase activityGO:005197410.7ERCC4, TP53
11error-prone translesion synthesisGO:004227610.7POLI, RPA1
12histone H2A monoubiquitinationGO:003551810.7DDB1, DDB2
13multicellular organism growthGO:003526410.7ERCC1, ERCC2, XPA
14DNA recombinationGO:000631010.5ERCC1, RPA1, XRCC3
15double-strand break repair via nonhomologous end joiningGO:000630310.5ERCC1, ERCC4, XRCC1
16negative regulation of protection from non-homologous end joining at telomereGO:190576510.5ERCC1, ERCC4, XRCC1
17translesion synthesisGO:001998510.5POLH, POLI, RPA1
18telomeric DNA-containing double minutes formationGO:006181910.5ERCC1, ERCC4, XRCC1
19embryonic organ developmentGO:004856810.4ERCC1, ERCC2, ERCC3, RAD23B
20regulation of mitotic cell cycle phase transitionGO:190199010.4DDB1, ERCC2, ERCC3, XPC
21DNA damage response, detection of DNA damageGO:004276910.3CUL4A, DDB1, RPA1
22interstrand cross-link repairGO:003629710.3ERCC1, ERCC4, RPA1, XRCC3
23double-strand break repair via homologous recombinationGO:000072410.2ERCC4, RPA1, XRCC1, XRCC3
24response to oxidative stressGO:000697910.2ERCC1, ERCC2, ERCC3, OGG1, XPA
25UV-damage excision repairGO:007091410.2DDB1, DDB2, ERCC1, XPA, XPC
26base-excision repairGO:000628410.1OGG1, RPA1, TP53, XPA, XRCC1
27response to UVGO:000941110.1DDB2, ERCC2, ERCC3, ERCC4, ERCC5, XPA
28proteasome-mediated ubiquitin-dependent protein catabolic processGO:004316110.1CUL4A, DDB1, RAD23B, TP53
29UV protectionGO:000965010.0ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, XPA
30nucleotide-excision repair, DNA damage recognitionGO:00007159.5CETN2, CUL4A, DDB1, DDB2, RAD23B, XPA
31viral processGO:00160329.3CUL4A, DDB1, ERCC2, ERCC3, TP53
32nucleotide-excision repair, DNA duplex unwindingGO:00007179.2CETN2, CUL4A, DDB1, DDB2, ERCC2, ERCC3
33nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.0CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
34nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.0CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
35nucleotide-excision repair, preincision complex stabilizationGO:00062939.0CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
36transcription-coupled nucleotide-excision repairGO:00062838.9CUL4A, DDB1, ERCC1, ERCC2, ERCC3, ERCC4
37nucleotide-excision repair, DNA incisionGO:00336838.8CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
38global genome nucleotide-excision repairGO:00709118.8CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
39nucleotide-excision repair, preincision complex assemblyGO:00062948.7CETN2, CUL4A, DDB1, DDB2, ERCC2, ERCC3
40nucleotide-excision repairGO:00062898.2CETN2, DDB1, DDB2, ERCC1, ERCC2, ERCC3
41DNA repairGO:00062817.3CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
42cellular response to DNA damage stimulusGO:00069747.1CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Molecular functions related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:000040511.0ERCC5, XPC
2DNA-dependent ATPase activityGO:000809410.7ERCC2, ERCC3, XRCC3
3nuclease activityGO:000451810.7ERCC1, ERCC4, ERCC5
4RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.7ERCC2, ERCC3
53 overhang single-stranded DNA endodeoxyribonuclease activityGO:199059910.6ERCC1, ERCC4, XRCC1
6endonuclease activityGO:000451910.5ERCC1, ERCC4, ERCC5, OGG1
7protein C-terminus bindingGO:000802210.3ERCC1, ERCC2, ERCC3, ERCC4
8single-stranded DNA endodeoxyribonuclease activityGO:000001410.3ERCC1, ERCC4
9TFIID-class transcription factor bindingGO:000109410.1ERCC1, ERCC4
10protein N-terminus bindingGO:004748510.0ERCC2, ERCC3, ERCC4, ERCC5, TP53
11single-stranded DNA bindingGO:00036979.3ERCC1, ERCC4, ERCC5, RAD23B, RPA1, XPC
12damaged DNA bindingGO:00036848.4DDB1, DDB2, ERCC1, ERCC3, ERCC4, OGG1
13DNA bindingGO:00036778.3DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
14protein bindingGO:00055156.7CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Sources for Xeroderma Pigmentosum, Variant Type

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet